实用医学杂志Issue(7)：1117-1120,4.DOI:10.3969/j.issn.1006-5725.2015.07.023
单纯性多数牙缺失家系的临床检查及基因突变分析
Clinical and genetic evaluation of a family with isolated oligodontia
摘要
Abstract
Objectives To investigate the mutational characteristics of MSX1 and PAX9 genes in a family affected by non-syndromic oligodonti so as to study the pathogenesis of oligodontia from a molecular prospective. Methods A family with oligodontia, but of different descent and unrelated healthy controls were enrolled in our study. Genomic DNA was isolated from the blood samples. Mutation analyses were performed by amplifying MSX1 and PAX9 exons and sequencing the products. Results DNA sequencing revealed a novel missense mutation c.348C>T in a highly conserved homeobox sequence of MSX1 and a known polymorphisms c. 469+35- c.469+45del in exon 1 and in intron in the two patients and in two unrelated healthy controls. But we did not detect any mutation in PAX9. Conclusion Our finding suggests the samesense mutation (c.348C>T) and the polymorphisms (c.469+35- c.469+45del) may be responsible for oligodontia phenotype in this Chinese family.关键词
多个牙缺失/MSX1/PAX9/基因多态性Key words
Oligodontia/MSX1/PAX9/Gene polymorphism引用本文复制引用
秦晗,马丽芳,徐宏志,龚永庆,轩昆..单纯性多数牙缺失家系的临床检查及基因突变分析[J].实用医学杂志,2015,(7):1117-1120,4.基金项目
国家自然科学基金项目（编号81271117）；江苏省连云港市科技局科研基金项目 （）
